M36T (p.Met36Thr) variant of TMEM43 (Transmembrane protein 43)
M36T (p.Met36Thr) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M36T (p.Met36Thr) variant details
- p.Met36Thr
- gnomAD 3-14129506-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.09
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available